Newbie here- questions regarding daughter's possible diagnosis

[jenni0925]

Hello, My name is Jennifer and I am researching info on EDS-Vascular type. Today, we visited a new rheumy for a second opinion. My daughter was diagnosed with Joint Hypermobility Syndrome in April of this year after complaining of persistent joint pain. We spent the entire summer doing physical therapy to strengthen core muscles. Today we saw a new doctor for a second opinion. This doctor confirmed/agreed with Joint Hypermobility Syndrome, but also mentioned Ehlers-Danlos Syndrome, vascular type. She told us about EDS, and suggested maybe getting her genetic tested for it, but she really dismissed it as being “no big deal” if she does have it. She basically told us that the only thing she will need to worry about is when she decides to have a baby there is an increased risk of placenta abruption with it. After reading here about EDS, I’m very concerned that this doctor doesn’t have enough knowledge about EDS to treat my daughter if that is what she has.

Daughter’s Medical history:
Full term birth, but was born with hip dysplasia (spent 8 weeks in a pavlik harness)
Flat feet- wears orthodicts for support
bruises easily and poor wound healing
Joint Hypermobility Sydrome- Knee caps can easily pop out, hip pain, and ankle pain
Vision problems (wears glasses to correct far sightedness)
small frame, tall and thin
vitamin D level is at 36- within normal range (doctor requested her to chew one vitamin D chewable)
at 2 yrs old had unexplained rash that lasted 3 months- no diagnosis
one ankle swelled up very large, but only once
had colonoscopy at the age of 6 due to constant stomach pain- normal
suffers from anxiety

For those that are familar with EDS, do any of these symptoms or history of symptoms sound famliar? Should I be concerned?

My medical histoy is too long to post, but basically I’m a mystery… no doctor can figure out what is wrong with me. So far my diagnosis are: Vit D deficiency, Osteopenia (diganosed at age 34-I’m now 39), Costocondritis, multiple MS symptoms but not MS, vertigo, heat intolerance, heart palpitations, anxiety, and many more….

Does this sound like I could have EDS too? Doctor said that it is genetic, so if daughter has it she got it from either her father or I, is that correct?

Thanks for reading….
Jennifer

[Dr. Diana]

Hi Jennifer, I’m so sorry for what you’re going through. (((Big hug))) Elrod is right — you want to have your daughter tested for vascular EDS, IMHO. This is one form of EDS that can be tested for, genetically. Three weeks or so later, you have your answer. The GREAT news is that most doctors are using Losartan to help strengthen the vessels, and this treatment is showing great promise. It is used in Marfans syndrome now. I remember my fear of VEDS, and how frightened I was at the time. Honestly, the symptoms that you share here may be indicative of most any of the forms of EDS, so promise not to panic, OK? There are so many great minds here, and we will all share our collective knowledge for you. Will you let us know how testing comes out? It’s worth pushing for it, I think. Gentle hug, Diana

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